Modern

Genetics:
Molecular
Biology
Part One: RNA Structure
Chapter 12
Definitions
 Nucleotide
 Consists of sugar (ribose in RNA and deoxyribose
in DNA), phosphate, and nitrogenous bases
 Nitrogenous Bases
 Purine-Adenine + Guanine (both DNA + RNA)
 Pyrimidine-Thymine (DNA only), Cytosine (both
DNA + RNA) and Uracil (RNA only-complement
to Adenine)
 Complementary Base Pairing
 In DNA: A-T or T-A; G-C or C-G
 In RNA: A-U or U-A; G-C or C-G
Nucleotide Composition of DNA
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O
NH2
C CH3
adenine C thymine HN C
C N
(A) N (T)
CH nitrogen-containing O C CH
HC C base
N N
N
O O
5 5
HO P O CH2 O HO P O CH2 O
O C H H C1 O C H H C1
4 4 sugar = deoxyribose
H C C H H C C H NH2
3 2 O 3 2
OH H OH H C
guanine C cytosine N CH
C N
(G) HN (C)
CH C CH
O
H2N C C N N
O N
O
5 5
phosphate HO P O CH2 O HO P O CH2 O
O C H H C1 O C H H C1
4 4
H C C H H C
2 C H 2
3 3
a. Purine nucleotides OH H b. Pyrimidine nucleotides OH H

DNA Composition in Various Species (%)

Species A T G C

Homo sapiens (human) 31.0 31.5 19.1 18.4

Drosophila melanogaster (fruit fly) 27.3 27.6 22.5 22.5
Zea mays (corn) 25.6 25.3 24.5 24.6
Neurospora crassa (fungus) 23.0 23.3 27.1 26.6
Escherichia coli (bacterium) 24.6 24.3 25.5 25.6
Bacillus subtilis (bacterium) 28.4 29.0 21.0 21.6 3
c. Chargaff’s data
 4

Comparison Structure
DNA RNA
 Double Stranded  Single Stranded
 Sugar-phosphate rails  Sugar-phosphate rail
 Sugar is Deoxyribose  Sugar is ribose
 Nitrogenous bases  Nitrogenous bases
 Paired with  Not paired
complement by
 A-U; G-C
hydrogen bonds
 A-T; G-C  Made in nucleus,
 Mostly in Nucleus leaves for cytoplasm
Modern
Genetics:
Molecular
Biology
Part One: Protein Synthesis
Chapter 12
Genes Specify Enzymes
Beadle and Tatum:
Experiments on the fungus
Neurospora crassa
Proposed that each gene
specifies the synthesis of one
enzyme
One-gene-one-enzyme
hypothesis
 7

The Genetic Code of Life

 The mechanism of gene expression
 DNA in genes specify information, but information is
not structure and function
 Genetic information is expressed into structure and
function through protein synthesis
 The
expression of genetic information into structure
and function:
 DNA in a gene determines the sequence of
nucleotides in an RNA molecule
 RNA controls the primary structure of a protein
The Central Dogma of Molecular Biology
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nontemplate strand
5 3

A G C G A C C C C

DNA T C G C T G G G G

3 5
template strand
transcription
in nucleus

5 3

A G C G A C C C C
mRN A

translation codon 1 codon 2 codon 3

at ribosome

O O O

polypeptide N C C N C N C C

R1 R2 R3
8
Serine Aspartate Proline
Three types of RNA
 Messenger (mRNA) - Takes a message
from DNA in the nucleus to ribosomes in
the cytoplasm
 Ribosomal (rRNA) - Makes up ribosomes,
which read the message in mRNA
 Transfer (tRNA) - Transfers the appropriate
amino acid to the ribosomes for protein
synthesis
Codon
 The unit of the genetic code consists of
codons, each of which is a unique
arrangement of symbols
 Each of the 20 amino acids found in proteins
is uniquely specified by one or more codons
 The symbols used by the genetic code are the
mRNA bases
 Function as “letters” of the genetic alphabet
 Genetic alphabet has only four “letters” (U, A, C, G)
 Codons in the genetic code are all three bases
(symbols) long
 Function as “words” of genetic information
 Permutations:
 There are 64 possible arrangements of four symbols
taken three at a time
 Often referred to as triplets
 Genetic language only has 64 “words”
Messenger RNA Codons 11
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First Second Base Third

Base U C A G Base
UUU UCU UAU UGU
U
phenylalanine serine tyrosine cysteine
UUC UCC UAC UGU
C
phenylalanine serine tyrosine cysteine
U
UUA UCA UAA UGA
A
leucine serine stop stop
UUG UCG UAG UGG
G
leucine serine stop tryptophan
CUU CCU CAU CGU
U
leucine proline histidine arginine
CUC CCC CAC CGC
C
leucine proline histidine arginine
C
CUA CCA CAA CGA
A
leucine proline glutamine arginine
CUG CCG CAG CGG G
leucine proline glutamine arginine
AUU ACU AAU AGU U
isoleucine threonine asparagine serine
AUC ACC AAC AGC C
isoleucine threonine asparagine serine
A
AUA ACA AAA AGA
A
isoleucine threonine lysine arginine
AUG (start) ACG AAG AGG G
methionine threonine lysine arginine
GUU GCU GAU GGU U
valine alanine aspartate glycine
GUC GCC GAC GGC C
valine alanine aspartate glycine
G
GUA GCA GAA GGA A
valine alanine glutamate glycine
GUG GCG GAG GGG G
valine alanine glutamate glycine
Universal Code
 Universal
 With few exceptions, all organisms use the code the
same way
 Encode the same 20 amino acids with the same 64
triplets
 Degenerate (redundant)
 There are 64 codons available for 20 amino acids
 Most amino acids encoded by two or more codons
 Unambiguous (codons are exclusive)
 None of the codons code for two or more amino
acids
 Each codon specifies only one of the 20 amino acids
 Contains start and stop signals
 Punctuation codons
 Like the capital letter we use to signify the beginning
of a sentence, and the period to signify the end
Steps in Protein Synthesis
 Transcription
 Use DNA as a template to make RNA
 Occurs in the nucleus
 RNA polymerase
 Translation
 mRNA leaves the nucleus
 Occurs at the ribosome
 tRNA brings amino acid to ribosome
 Peptides are bonded to make polypeptides
 Transcription 14
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3′ 5′

terminator

gene strand template

strand

3′ C
direction of
polymerase
movement
T
RNA
polymerase

DNA
template
strand

mRNA
transcript

promoter

5′

5′ 3′ to RNA processing
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mRNA processing
 Pre-mRNA,is  RNA splicing:
composed of  Primary transcript
consists of:
exons and  Some segments that will
introns. not be expressed
(introns)
 The exons will be  Segments that will be
expressed (exons)
expressed,  Performed by
 The introns, occur spliceosome
in between the complexes in
nucleoplasm
exons.  Introns are excised
 Allows a cell to pick  Remaining exons are
and choose which spliced back together
exons will go into a  Result is a mature
particular mRNA mRNA transcript
Messenger RNA Processing in Eukaryotes

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exon exon exon

DNA
intron intron

17
Messenger RNA Processing in Eukaryotes
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exon exon exon

DNA
intron intron
transcription

exon exon exon

pre-mRNA
5 intron intron 3

18
Messenger RNA Processing in Eukaryotes
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exon exon exon

DNA
intron intron
transcription

exon exon exon

pre-mRNA
5 intron intron 3

exon exon exon

5 3
cap intron intron poly-A tail 19
Translation
 tRNA molecules come in 64
different kinds
 All are very similar except
that
 One end bears a specific
triplet (of the 64 possible)
called the anticodon
 The other end binds with a
specific amino acid type
 tRNA synthetases attach the
correct amino acid to the
correct tRNA molecule
 All tRNA molecules with a
specific anticodon will
always bind with the same
amino acid
tRNA anticodon matches with
mRNA
 64types of RNA,
with anticodon to
mRNA codon
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22
Steps of Translation
 Initiation  Small ribosomal subunit
 Components necessary attaches to mRNA
for initiation are:
 Small ribosomal subunit transcript
 mRNA transcript
 Initiator tRNA, and
 Large ribosomal  Beginning of transcript
subunit always has the START
 Initiation factors codon (AUG)
(special proteins that
bring the above
together)
 Initiator tRNA:  Initiator tRNA (UAC)
 Always has the UAC attaches to P site
anticodon
 Always carries the
amino acid methionine  Large ribosomal subunit
Capable of binding to

the P site joins the small subunit
 Initiation 24
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amino acid methionine

Met

initiator tRNA

5 mRNA E site P site A site

3 Met

small ribosomal subunit

large ribosomal subunit U AC

AUG

5 start codon 3

A small ribosomal subunit

binds to mRNA; an initiator
tRNA pairs with the mRNA
start codon AUG. The large ribosomal subunit
completes the ribosome.
Initiator tRNA occupies the
P site. The A site is ready
for the next tRNA.

Initiation
  The second tRNA moves
Elongation 
to P site (translocation)
The spent initiator tRNA
 Growth in length of the moves to the E site and
polypeptide exits
 RNA molecules bring  The ribosome reads the
their amino acid fares next codon in the mRNA
to the ribosome  Allows only one type of
 Ribosome reads a tRNA to bring its amino acid
codon in the mRNA  Must have the anticodon
complementary to the
 Allows only one type mRNA codon being read
of tRNA to bring its Joins the ribosome at its A
amino acid 
site
 Must have the  The dipeptide on the 2nd
anticodon amino acid is connected to
complementary to the amino acid of the 3rd
the mRNA codon tRNA by a peptide bond
being read
 The incoming tRNA
joins the ribosome at
its A site
 Elongation
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Met
peptide
Ser bond

Ala

Trp

Val

C A U
G U A G A C

5 3
26
 Elongation
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Met Met
asp
Met Met Ser
peptide tRNA Ser
Ser bond Ser Ala
Ala
Ala C U G Ala Trp Trp
peptide
Trp anticodon Trp Val bond Val
Val Val Asp
Asp Asp

C A U C A U C U G C U G C U G
C A U
G U A G A C G U A G A C A C C
G U A G A C G U A G A C

3
5 3 5 5 3 5 3

1 A tRNA–amino acid 2 Two tRNAs can be at a 3 Peptide bond formation 4 The ribosome moves forward; the
approaches the ribosome at one time; attaches the peptide “empty” tRNA exits from the E site;
ribosome and binds the anticodons are chain to the newly the next amino acid–tRNA complex
at the A site. paired to the codons. arrived amino acid. is approaching the ribosome.

27
Termination
 Codon
 Breaks the connection.
Mutations in
Genes
Chapter 13, Section 13.3
Gene Mutations
A gene mutation is a permanent change
in the sequence of bases in DNA.
 The effects of a gene mutation can range
from
 No effect on protein activity to
 Complete inactivation of the protein
 Germ-linemutations occur in sex cells
 Somatic mutations occur in body cells
Spontaneous
 Chemical changes in DNA that lead to
mispairing during replication
 Movement of transposons from one
chromosomal location to another
 Replication Errors
 DNA polymerase
 Proofreads new strands
 Generally corrects errors
 Overall mutation rate is 1 in 1,000,000,000
nucleotide pairs replicated
Induced
 Caused by mutagens such as radiation
and organic chemicals
 Many mutagens are also carcinogens
(cancer-causing)
 Environmental Mutagens
 Ultraviolet Radiation
 Tobacco Smoke
The Ames Test For Mutagenicity
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Suspected Control
chemical
mutagen

bacterial bacterial
strain strain
(requires (requires
histidine) Plate onto petri plates histidine)
that lack histidine.

bacterial
Incubate overnight
growth

Mutation occurred Mutation did not occur 33

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Gene Mutation Types
 Point Mutations  For example, sickle-cell
 Involve a disease is caused by a
change in a single point mutation (a
single DNA missensemutation) in
nucleotide
 Change one the beta-hemoglobin
codon to a gene that converts a
different codon GAG codon into GUG,
 Effects on the which encodes the
protein vary: amino acid valine
 Nonfunctional
 Reduced
rather than glutamic
functionality acid.
 Unaffected
Types of Point Mutations
Frameshift
 One or two
nucleotides
are either
inserted or  Normal :
deleted from THE CAT ATE THE RAT
DNA
 The protein is  After deletion:
always THE ATA TET HER AT
rendered
nonfunctional  After insertion:
THE CCA TAT ETH ERA T
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 Animation

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39
 Point Mutations in Hemoglobin
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3 5
No mutation
C AC G T G G AGT G AG GT C T C C T C
Val His Leu Thr Pro Glu Glu

b. Normal red blood cell c. Sickled red blood cell

b, c: © Stan Flegler/Visuals Unlimited.

40
Point Mutations in Hemoglobin

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3 5

No mutation
C A CG T GGAGT G A G G T C T C C T C

Val His Leu Thr Pro Glu Glu

His His
(normal protein) C A C G T AG AG T G A G G T C T C C T C

Val His Leu Thr Pro Glu Glu

b. Normal red blood cell c. Sickled red blood cell

Glu Val
(abnormal protein) C A C G T GG AGT G A G G T C A C C T C

Val His Leu Thr Pro Val Glu

Glu Stop
(incomplete protein) C A C G T GGAGT G AG G T A T C C T C

Val His Leu Thr Pro Stop

a.
b, c: © Stan Flegler/Visuals Unlimited.

41
Cancer
 Development of cancer involves a series
of accumulating mutations
 Proto-oncogenes – Stimulate cell division
 Mutated proto-oncogenes become oncogenes
that are always active
 Tumor suppressor genes – inhibit cell
division
 Mutations in oncogene and tumor
suppressor genes:
 Stimulate the cell cycle uncontrollably
 Lead to tumor formation